Linked Data
ClinVar Variation Id:
294524
dbSNP Id:
rs757045842
ExAC:
1:196712770 T / C
gnomAD v2:
1-196712770-T-C
gnomAD v3:
1-196743640-T-C
gnomAD v4:
1-196743640-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.196743640T>C , CM000663.2:g.196743640T>C | GRCh38 |
| NC_000001.10:g.196712770T>C , CM000663.1:g.196712770T>C | GRCh37 |
| NC_000001.9:g.194979393T>C | NCBI36 |
| NG_007259.1:g.96630T>C , LRG_47:g.96630T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000470918.2:n.4338+12T>C | ||
| ENST00000695970.1:c.3136+12T>C | ENSP00000512297.1:n.3136+12T>C | |
| ENST00000695971.1:c.3289+12T>C | ENSP00000512298.1:n.3289+12T>C | |
| ENST00000695972.1:c.*387+12T>C | ENSP00000512299.1:n.*387+12T>C | |
| ENST00000695973.1:c.*1674+12T>C | ENSP00000512300.1:n.*1674+12T>C | |
| ENST00000695974.1:c.3133+12T>C | ENSP00000512301.1:n.3133+12T>C | |
| ENST00000695975.1:c.*1437+12T>C | ENSP00000512302.1:n.*1437+12T>C | |
| ENST00000695976.1:c.3121+12T>C | ENSP00000512303.1:n.3121+12T>C | |
| ENST00000695981.1:c.3310+12T>C | ENSP00000512306.1:n.3310+12T>C | |
| ENST00000695984.1:c.1318+12T>C | ENSP00000512309.1:n.1318+12T>C | |
| ENST00000695986.1:c.*2961+12T>C | ENSP00000512311.1:n.*2961+12T>C | |
| ENST00000696026.1:c.*1592+12T>C | ENSP00000512335.1:n.*1592+12T>C | |
| ENST00000696027.1:c.3304+12T>C | ENSP00000512336.1:n.3304+12T>C | |
| ENST00000696028.1:c.3238+12T>C | ENSP00000512337.1:n.3238+12T>C | |
| ENST00000696029.1:c.3304+12T>C | ENSP00000512338.1:n.3304+12T>C | |
| ENST00000696031.1:c.*2828+12T>C | ENSP00000512340.1:n.*2828+12T>C | |
| ENST00000696032.1:c.3310+12T>C | ENSP00000512341.1:n.3310+12T>C | |
| ENST00000696033.1:c.1160-36157T>C | ENSP00000512342.1:n.1160-36157T>C | |
| ENST00000367429.9:c.3310+12T>C MANE Select | ENSP00000356399.4:n.3310+12T>C | |
| ENST00000367429.8:c.3310+12T>C | ENSP00000356399.4:n.3310+12T>C | |
| ENST00000466229.5:n.6408+12T>C | ||
| NM_000186.3:c.3310+12T>C , LRG_47t1:c.3310+12T>C | NP_000177.2:n.3310+12T>C | |
| XR_001737134.2:n.3496+12T>C | ||
| NM_000186.4:c.3310+12T>C MANE Select | NP_000177.2:n.3310+12T>C |